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Displaying 20 of 209,107 results for " "
  1. NM_032583.3(ABCC11):c.538G>A (p.Gly180Arg) AND Axillary odor

    Type: Variation

    Species: human

  2. NM_001031717.3(CRELD1):c.484C>G (p.Pro162Ala) AND Atrioventricular septal defect 2

    Type: Variation

    Species: human

  3. NM_001042432.1(CLN3):c.597C>A (p.Tyr199Ter) AND Ceroid lipofuscinosis, neuronal, 3, protracted

    Type: Variation

    Species: human

  4. NM_000280.4(PAX6):c.1171A>G (p.Thr391Ala) AND Optic nerve aplasia, bilateral

    Type: Variation

    Species: human

  5. IVD, 90-BP DEL, NT145 AND Isovaleric acidemia, type II

    Type: Variation

    Species: human

  6. NM_001031717.3(CRELD1):c.320G>A (p.Arg107His) AND Atrioventricular septal defect, partial, with heterotaxy syndrome

    Type: Variation

    Species: human

  7. NM_005957.4(MTHFR):c.971A>G (p.Asn324Ser) AND Homocystinuria due to MTHFR deficiency

    Type: Variation

    Species: human

  8. NM_144585.3(SLC22A12):c.894G>T (p.Glu298Asp) AND Familial renal hypouricemia

    Type: Variation

    Species: human

  9. NM_000135.2(FANCA):c.894_1006del113 (p.Trp298Cysfs) AND Fanconi anemia, complementation group A

    Type: Variation

    Species: human

  10. NM_000135.2(FANCA):c.513G>A (p.Trp171Ter) AND Fanconi anemia, complementation group A

    Type: Variation

    Species: human

  11. NM_144585.3(SLC22A12):c.1253T>G (p.Leu418Arg) AND Familial renal hypouricemia

    Type: Variation

    Species: human

  12. NM_005957.4(MTHFR):c.1129C>T (p.Arg377Cys) AND Homocystinuria due to MTHFR deficiency

    Type: Variation

    Species: human

  13. NM_004993.5(ATXN3):c.892_894CAG(8_36) (p.Gln298_Gln305=) AND Parkinson disease, late-onset

    Type: Variation

    Species: human

  14. NM_018319.3(TDP1):c.1478A>G (p.His493Arg) AND Spinocerebellar ataxia autosomal recessive with axonal neuropathy

    Type: Variation

    Species: human

  15. NM_130849.3(SLC39A4):c.318C>A (p.Asn106Lys) AND Hereditary acrodermatitis enteropathica

    Type: Variation

    Species: human

  16. NM_024426.4(WT1):c.1333C>T (p.His445Tyr) AND Diffuse mesangial sclerosis

    Type: Variation

    Species: human

  17. NM_001008216.1(GALE):c.937C>A (p.Leu313Met) AND UDPglucose-4-epimerase deficiency

    Type: Variation

    Species: human

  18. TRPM6, IVS23AS, A-G, -68 AND Hypomagnesemia 1, intestinal

    Type: Variation

    Species: human

  19. NM_016169.3(SUFU):c.71delC (p.Pro24Argfs) AND Medulloblastoma with extensive nodularity

    Type: Variation

    Species: human

  20. NM_017662.4(TRPM6):c.166C>T (p.Arg56Ter) AND Hypomagnesemia 1, intestinal

    Type: Variation

    Species: human


Displaying 20 of 209,107 results for " "